A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6867319



Internal ID9917383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25826823..25826995hg38UCSC Ensembl
Outerchr13:26400961..26401133hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747173, esv2747161
Supporting Variants
SamplesSSM089
Known GenesATP8A2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6867319
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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